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Page 1
Submitting Novel Globin Gene Variants to Hemoglobin.
Harteveld CL, Patrinos GP, Traeger-Synodinos J, Kountouris P, Bento C, Adekile A. Harteveld CL, et al. Among authors: kountouris p. Hemoglobin. 2023 Nov;47(4):135-136. doi: 10.1080/03630269.2023.2258618. Epub 2023 Nov 3. Hemoglobin. 2023. PMID: 37920883 No abstract available.
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris P, Stephanou C, Lederer CW, Traeger-Synodinos J, Bento C, Harteveld CL, Fylaktou E, Koopmann TT, Halim-Fikri H, Michailidou K, Nfonsam LE, Waye JS, Zilfalil BA, Kleanthous M; ClinGen Hemoglobinopathy Variant Curation Expert Panel. Kountouris P, et al. Hum Mutat. 2022 Aug;43(8):1089-1096. doi: 10.1002/humu.24280. Epub 2021 Sep 24. Hum Mutat. 2022. PMID: 34510646 Free PMC article.
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S, Xenophontos M, Minaidou A, Stephanou C, Harteveld CL, Bento C, Traeger-Synodinos J, Fylaktou I, Yasin NM, Abdul Hamid FS, Esa E, Halim-Fikri H, Zilfalil BA, Kakouri AC; ClinGen Hemoglobinopathy Variant Curation Expert Panel; Kleanthous M, Kountouris P. Tamana S, et al. Among authors: kountouris p. Elife. 2022 Dec 1;11:e79713. doi: 10.7554/eLife.79713. Elife. 2022. PMID: 36453528 Free PMC article.
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P, Galacteros F, Glenthøj A, Gutiérrez Valle V, Kattamis A, Kunz J, Lobitz S, McMahon C, Pellegrini M, Reidel S, Russo G, Santos Freire M, van Beers E, Kountouris P, Gulbis B. Mañú Pereira MDM, et al. Among authors: kountouris p. Lancet Haematol. 2023 Aug;10(8):e687-e694. doi: 10.1016/S2352-3026(23)00182-5. Epub 2023 Jul 11. Lancet Haematol. 2023. PMID: 37451300 Review.
The changing epidemiology of β-thalassemia in the Greek-Cypriot population.
Kyrri AR, Kalogerou E, Loizidou D, Ioannou C, Makariou C, Kythreotis L, Phylactides M, Kountouris P, Angastiniotis M, Modell B, Kleanthous M. Kyrri AR, et al. Among authors: kountouris p. Hemoglobin. 2013;37(5):435-43. doi: 10.3109/03630269.2013.801851. Hemoglobin. 2013. PMID: 24006929
Global Globin Network Consensus Paper: Classification and Stratified Roadmaps for Improved Thalassaemia Care and Prevention in 32 Countries.
Halim-Fikri BH, Lederer CW, Baig AA, Mat-Ghani SNA, Syed-Hassan SR, Yusof W, Abdul Rashid D, Azman NF, Fucharoen S, Panigoro R, Silao CLT, Viprakasit V, Jalil N, Mohd Yasin N, Bahar R, Selvaratnam V, Mohamad N, Nik Hassan NN, Esa E, Krause A, Robinson H, Hasler J, Stephanou C, Raja-Sabudin RZ, Elion J, El-Kamah G, Coviello D, Yusoff N, Abdul Latiff Z, Arnold C, Burn J, Kountouris P, Kleanthous M, Ramesar R, Zilfalil BA, On Behalf Of The Global Globin Network Ggn. Halim-Fikri BH, et al. Among authors: kountouris p. J Pers Med. 2022 Mar 31;12(4):552. doi: 10.3390/jpm12040552. J Pers Med. 2022. PMID: 35455667 Free PMC article.
Editorial: Insights in thalassemia: from genomics to clinical practice.
Silao CLT, Latiff ZA, Kountouris P, Zilfalil BA. Silao CLT, et al. Among authors: kountouris p. Front Pediatr. 2023 Jul 14;11:1222946. doi: 10.3389/fped.2023.1222946. eCollection 2023. Front Pediatr. 2023. PMID: 37520048 Free PMC article. No abstract available.
22 results